An Indian infant with de novo duplication of 16p chromosome: A rare genetic syndrome-Reference-Cited by-同舟云学术

An Indian infant with de novo duplication of 16p chromosome: A rare genetic syndrome

Published:2020-12-22 Issue: Volume:73 Page:266-268
ISSN:0019-5359
Container-title:Indian Journal of Medical Sciences
language:en
Short-container-title:IJMS

Author:

Goyal Manisha¹,Gupta Ashok¹,Faruq Mohammed²,Shrivastava Divya³

Affiliation:

1. Center of Rare Disease, Department of Pediatrics, SMS Medical College and Hospital, Jaipur, Rajasthan, India,

2. Department of Genomics, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India,

3. Department of School of Life Science, Jaipur National University, Jaipur, Rajasthan, India,

Abstract

Facial dysmorphism along with multiple congenital anomalies is observed in many genetic syndromes mostly in chromosomal microdeletion or duplication, which cannot be detected by conventional karyotype. Here, we report a case with facial dysmorphism, cleft palate, congenital heart defect, and umbilical hernia, diagnosed with duplication at chromosome 16p13.3 by array comparative genomic hybridization (CGH) at very early age. Array CGH is the advanced diagnostic technology; enable to diagnose chromosomal abnormalities earlier thus can provide appropriate medical management and prognostication.

Publisher

Scientific Scholar

Subject

General Medicine

Reference9 articles.

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5. Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype;Demeer;Eur J Med Genet,2013